Gene Summary

Name:
left right determination factor 1
Synonyms:
Stra3,  Ebaf,  lefty-1,  Lefty

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Lefty1tm1b(KOMP)Wtsi HET Early adult 3.85×10-09
increased total body fat amount Lefty1tm1b(KOMP)Wtsi HET Early adult 7.45×10-05
increased circulating potassium level Lefty1tm1b(KOMP)Wtsi HET Early adult 9.05×10-06
preweaning lethality, complete penetrance Lefty1tm1b(KOMP)Wtsi HOM   Early adult 0.00

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

Echo

M-Mode Images

32 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Human diseases caused by Lefty1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lefty1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Dextr... OMIM:605376
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc... OMIM:618300
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ... OMIM:619702
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Double outlet ri... OMIM:231060
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilate... OMIM:306955
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch... OMIM:618254
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Recurrent ... OMIM:620570
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Enla... OMIM:314390
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Hepatomegaly, Abnorm... ORPHA:860
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ven... OMIM:619657
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Meacham Syndrome
Enlarged kidney, Bicuspid aortic valve, Congenital alveolar dysplasia, Transposition of the great... OMIM:608978
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Heterotaxy, Bacterial endocarditis, Coronary sinus enlargeme... ORPHA:1330
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Abnormal heart morphology, Interrupte... ORPHA:185
Meacham Syndrome
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Hypoplasia o... ORPHA:3097
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Fetal Trimethadione Syndrome
Transposition of the great arteries, Hypospadias, Tetralogy of Fallot, Atrial septal defect, Vent... ORPHA:1913
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Right atrial isomerism, Ascending tubular aorta aneurysm... OMIM:270100
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Te... OMIM:617478
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Ur... OMIM:618845
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Pulmonary artery atresia, Elevated circulating alanine aminotransferase conc... OMIM:613759
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Diabetic Embryopathy
Transposition of the great arteries, Ureteral duplication, Abnormal aortic morphology, Hydronephr... ORPHA:1926
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Atelectasis, Dextrocardia, Persistent left superior vena cava, Aortic val... OMIM:615067
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Pulmonic stenosis, Alveolar... OMIM:601186
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve... OMIM:619343
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Hydronephrosis, Tetralogy of Fallot... ORPHA:1727
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Absence Of The Pulmonary Artery
Pulmonary edema, Recurrent respiratory infections, Patent foramen ovale, Truncus arteriosus, Abno... ORPHA:980
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,... OMIM:212093
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Renal hypoplasia, Coarctation of aorta, Atrial septal defect, Ve... OMIM:264480
Double Outlet Right Ventricle
Heterotaxy, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta... ORPHA:3426
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Coronary sinus enlargement, Dysplastic tricuspid valve, Accessory sp... OMIM:618280
Megabladder, Congenital
Stage 5 chronic kidney disease, Left ventricular noncompaction cardiomyopathy, Patent ductus arte... OMIM:618719
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
8P23.1 Microdeletion Syndrome
Atrioventricular canal defect, Transposition of the great arteries, Hypospadias, Abnormal aortic ... ORPHA:251071
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... OMIM:600001
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet r... OMIM:179613
Down Syndrome
Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen ovale, Ebstein anomaly of... OMIM:190685
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Mesenteric cyst, Hypospadias, Recurrent respiratory infections, Patent fo... OMIM:618316
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary dysplasia, Misalignment of ... OMIM:265380
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:249670
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Ritscher-Schinzel Syndrome 1
Hypospadias, Pulmonic stenosis, Aortic valve stenosis, Hydronephrosis, Tetralogy of Fallot, Doubl... OMIM:220210
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Congenital Tracheomalacia
Pneumothorax, Pneumonia, Emphysema, Patent ductus arteriosus, Right aortic arch, Recurrent upper ... ORPHA:95430
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis, Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... ORPHA:1457
Klippel-Trénaunay Syndrome
Hepatomegaly, Abnormal tricuspid valve morphology, Hematuria, Venous insufficiency, Peripheral ar... ORPHA:90308
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Persistent left superior vena cava, Abnormal heart morphol... ORPHA:477817
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Imperforate tricuspid va... ORPHA:1880
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Abnormal left ventricle morphology, Premature coronary artery atherosclerosi... OMIM:300845
Bardet-Biedl Syndrome 19
Renal insufficiency, Partial atrioventricular canal defect, Renal hypoplasia, Hydronephrosis, Pat... OMIM:615996
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Recurrent respiratory infections OMIM:253300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries OMIM:617877
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Pulmonary sequestration, Patent ductus arteriosus, Atrial septal defect, Ventricular... OMIM:618330
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of Fallot, Microphallus OMIM:615542
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Hypospadias, Pulmonary hypoplasia, Patent du... OMIM:313850
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Coarctat... ORPHA:1120
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal... OMIM:601612
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Pancreatic hypoplasia, Abnormality ... ORPHA:1666
Congenital Myopathy 11
Atrial septal defect, Patent foramen ovale, Elevated circulating hepatic transaminase concentrati... OMIM:619967
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Renal hypoplasia, Tetralogy of Fallot, Atrial ... OMIM:612946
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Carpenter Syndrome 1
Transposition of the great arteries, Hydroureter, Pulmonic stenosis, Hydronephrosis, Tetralogy of... OMIM:201000
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic pulmonary valve, Right ventricular dilatation, Mitral valve ... OMIM:612863
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial s... ORPHA:401935
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hydronephrosis ORPHA:251076
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias ORPHA:1919
Transaldolase Deficiency
Cirrhosis, Coarctation of aorta, Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy ORPHA:101028
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia, Tetralogy of Fallot, Absent gallbladder, Micropenis, Comple... OMIM:617925
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Recurrent pneum... ORPHA:1329
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Renal tubular dysfunctio... OMIM:614886
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Abnormal aortic morphology, Tetralogy of Fallot, Multiple renal cysts, Abn... ORPHA:1166
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Renal insufficiency, Cholestasis, R... OMIM:610205
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, ... OMIM:249270
Renal Tubular Dysgenesis
Proximal tubulopathy, Pulmonary hypoplasia, Tetralogy of Fallot, Multiple renal cysts, Nephropathy ORPHA:3033
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon... ORPHA:2306
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Pulmona... ORPHA:2847
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Li-Campeau Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:619189
Holt-Oram Syndrome
Atrioventricular canal defect, Abnormal aortic morphology, Anomalous pulmonary venous return, Pat... ORPHA:392
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... OMIM:615482
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Stillbirth, Hepatomegaly, Enlarged kidney, Truncu... OMIM:615415
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atrial septal defect... OMIM:253800
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Hydronephrosis ORPHA:1780
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hypoplastic lef... OMIM:616276
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory in... OMIM:613807
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory infections, Ventricul... OMIM:616037
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As... ORPHA:3092
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute hepatic fa... ORPHA:1667
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Right aortic arch, Enuresis nocturna, Vesicoureter... OMIM:301111
Prune Belly Syndrome
Hydroureter, Recurrent respiratory infections, Renal insufficiency, Vesicoureteral reflux, Urogen... ORPHA:2970
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Coarctation of aorta, Splenomegaly, Recurrent respiratory infections, Ventricular s... OMIM:620210
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric... ORPHA:371428
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Bilateral trilobed lung, Tetralogy of Fallot,... OMIM:613630
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic root aneurysm, Pulmonic stenosis, Mitral valve prolapse, Persisten... OMIM:609008
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentratio... OMIM:614876
Holt-Oram Syndrome
Hypoplasia of right ventricle, Abnormal coronary artery origin, Perimembranous ventricular septal... OMIM:142900
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Congenital Rubella Syndrome
Jaundice, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Abnormality of the pulmonary arte... ORPHA:290
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Absent gallbladder, Asp... ORPHA:210122
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Meier-Gorlin Syndrome 7
Meconium peritonitis, Hypospadias, Vesicoureteral reflux, Pulmonary hypoplasia, Urethral strictur... OMIM:617063
8Q24.3 Microdeletion Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Unilateral renal agenesis, Hypoplastic aor... ORPHA:508488
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Aortic root aneu... OMIM:616652
Indomethacin Embryofetopathy
Renal insufficiency, Cardiomyopathy, Nephropathy, Atrial septal defect, Ventricular septal defect... ORPHA:1909
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Dextrocardia, Patent ductus arteriosus ORPHA:2863
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypospadias, Vesicouretera... OMIM:301056
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:300887
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Dextrocardia OMIM:614679
Meckel Syndrome, Type 7
Situs inversus totalis, Multicystic kidney dysplasia, Cholestasis, Biliary cirrhosis, Portal hype... OMIM:267010
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul... OMIM:604169
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:2412
Ciliary Dyskinesia, Primary, 7
Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Dextrocardia OMIM:611884
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Pseudohypoaldosteronism Type 2
Hyperkalemia, Abnormal dental enamel morphology ORPHA:757
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Patent foramen ovale, Abnormal vena cava morphology, Vesicoureteral reflux, Mitral s... ORPHA:163956
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Timothy Syndrome
Pneumonia, Bronchitis, Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Cardi... OMIM:601005
Noonan Syndrome 3
Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, M... OMIM:609942
10Q22.3Q23.3 Microdeletion Syndrome
Tricuspid valve prolapse, Atrioventricular canal defect, Patent ductus arteriosus ORPHA:276413
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Patent foramen ovale, Hepatic fibrosis, Coarct... OMIM:606003
Maternal Phenylketonuria
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Bladder exstrophy, Double o... ORPHA:2209
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Primary Pulmonary Hypoplasia
Pneumothorax, Dextrocardia, Ureteral stenosis, Secundum atrial septal defect, Pulmonary hypoplasi... ORPHA:2257
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis OMIM:601355
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri... OMIM:616589
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Complete atrioventricular canal defect ORPHA:476126
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Stroke ORPHA:49827
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal coro... ORPHA:488618
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Tetrasomy 15Q26
Hypoplastic aortic arch, Hydronephrosis, Patent ductus arteriosus, Atrial septal defect, Horsesho... OMIM:614846
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, ... ORPHA:682
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Proteus Syndrome
Splenomegaly, Venous malformation OMIM:176920
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia, Patent ductus arteriosus OMIM:616867
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, Co... OMIM:600987
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hypospadias, Recurrent respir... ORPHA:7
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Situs inversus totalis, Dextrocardia OMIM:618063
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, Neonatal death OMIM:615524
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Ventricular septal defect, Crossed fused renal ectopia, Patent ductus ... OMIM:618142
Pleural Mesothelioma
Hepatomegaly, Pleural effusion, Obstruction of the superior vena cava, Abnormal lung morphology, ... ORPHA:50251
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Patent foramen ovale, Renal hypoplasia, Coarctation of aorta, Abnormal... OMIM:618494
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Heterotaxy OMIM:618781
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect OMIM:611174
Kaposi Sarcoma
Abnormality of the liver, Abnormal lung morphology, Abnormality of the spleen, Venous insufficiency ORPHA:33276
Coronary Arterial Fistula
Atrial septal defect, Vascular dilatation, Cardiomegaly, Bacterial endocarditis, Patent foramen o... ORPHA:2041
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Transposition of the great arteries, Hepatomegaly, Elevated circulating alanine aminotransferase ... OMIM:280000
Noonan Syndrome 8
Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ... OMIM:615355
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ... OMIM:619149
Giant Cell Arteritis
Hematuria, Recurrent pharyngitis, Vasculitis, Double outlet right ventricle with subpulmonary ven... ORPHA:397
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Arteriovenous malformation, Abnormal aortic arch morphology ORPHA:1110
Phaver Syndrome
Coarctation of aorta, Ventricular septal defect, Pulmonary artery atresia, Hypoplastic aortic arch ORPHA:2876
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Emphysema, Abnormal cardiac ventricle morphology, Aortic root aneurysm,... ORPHA:284979
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect, Micropenis, Patent ductus arteriosus OMIM:613870
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral va... OMIM:151100
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... OMIM:615444
Cardioacrofacial Dysplasia 2
Common atrium, Left superior vena cava draining to coronary sinus, Atrioventricular canal defect OMIM:619143
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Recurr... ORPHA:1842
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Aplasia of posterior communicating artery, Neurogenic bladd... OMIM:613686
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Recurrent viral upper respiratory tract infections OMIM:616898
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Recurrent pneumonia, Recurrent upper respiratory tract infections, Atri... OMIM:619769
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Chime Syndrome
Pulmonary valve atresia, Transposition of the great arteries, Hydronephrosis, Tetralogy of Fallot... ORPHA:3474
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Pleural effusion, Pericardial effusion, Atrial septal defect, Varic... OMIM:617300
Cat Eye Syndrome
Tricuspid atresia, Biliary atresia, Vesicoureteral reflux, Total anomalous pulmonary venous retur... OMIM:115470
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Cholestasis, Elevated circulating alanine aminotransferase concentration, Pulmon... OMIM:614300
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate... ORPHA:284169
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Polycystic kidney dysplasia, Multip... OMIM:613095
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Dextrocardia OMIM:606763
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Hypospadias ORPHA:276422
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st... OMIM:614823
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
Pentalogy Of Cantrell
Hypospadias, Abnormal pericardium morphology, Tetralogy of Fallot, Pulmonary hypoplasia, Absent g... ORPHA:1335
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch, Hydronephrosis, Bicuspid aortic valve, Ventri... OMIM:620511
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Hypospadias, Hypoplasia of penis ORPHA:1381
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect, Recurrent lower respiratory tract infections OMIM:617744
Distal Deletion 15Q
Abnormal aortic arch morphology, Patent ductus arteriosus, Hypospadias, Multicystic kidney dyspla... ORPHA:1596
Von Willebrand Disease
Abnormal mitral valve morphology, Gastrointestinal angiodysplasia, Venous insufficiency ORPHA:903
Mass Syndrome
Ascending aortic dissection, Mitral valve prolapse, Aortic aneurysm OMIM:604308
Distal Triplication 15Q
Hypoplastic aortic arch, Polycystic kidney dysplasia, Abnormal heart morphology, Pulmonary hypopl... ORPHA:314588
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Horseshoe kidney, Endocardial fibroelastosis ORPHA:1973
Alg3-Cdg
Decreased liver function, Pulmonary hypoplasia, Cardiomyopathy, Coarctation of the descending aor... ORPHA:79321
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Patent foramen ovale, Abnormal heart morphology, Recurrent pneumonia, Patent ductus ... ORPHA:500159
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Interrupted aortic arch, Abnormal aortic morphology, Aortic valve steno... ORPHA:2396
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Pulmonary artery atresia, Supravalvar pulmonary stenosis, Aortic valve ... OMIM:618164
Polysyndactyly With Cardiac Malformation
Stillbirth, Renal cyst, Hepatic cysts, Atrial septal defect, Ventricular septal defect OMIM:263630
Lambert Syndrome
Jaundice, Hypospadias, Intrahepatic biliary atresia, Cholestasis, Ventricular septal defect ORPHA:1296
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Hypoplastic aortic arch, Patent foramen ovale, Vesicoureteral... OMIM:157800
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Neonatal death, Ventricular septal defect, Cystic renal dysplasia OMIM:613730
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect ORPHA:75389
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Diets-Jongmans Syndrome
Ventricular septal defect, Hypospadias, Heterotaxy, Interrupted inferior vena cava with azygous c... OMIM:618846
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Coarctation of aorta, Atrioventricular canal defect, Micropenis, Dextrocardia OMIM:618929
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Hydrolethalus Syndrome 1
Abnormal lung lobation, Stillbirth, Hypospadias, Accessory spleen, Hydronephrosis, Ventricular se... OMIM:236680
Vater/Vacterl Association
Transposition of the great arteries, Patent urachus, Ectopic kidney, Hypospadias, Vesicoureteral ... OMIM:192350
Marfan Syndrome
Tricuspid valve prolapse, Emphysema, Dilatation of an abdominal artery, Aortic aneurysm, Aortic r... ORPHA:558
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Neu-Laxova Syndrome 1
Stillbirth, Transposition of the great arteries, Patent foramen ovale, Neonatal death, Pulmonary ... OMIM:256520
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux ORPHA:228399
Methimazole Embryofetopathy
Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology, Hypospadias ORPHA:1923
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy OMIM:615981
Restrictive Dermopathy
Transposition of the great arteries, Ureteral duplication, Dextrocardia, Hypospadias, Ascending t... ORPHA:1662
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Loeffler Endocarditis
Left atrial enlargement, Endocardial fibrosis, Abnormal morphology of the chordae tendinae of the... ORPHA:75566
Congenital Heart Block
Patent foramen ovale, Pleural effusion, Pericardial effusion, Patent ductus arteriosus, Endocardi... ORPHA:60041
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:743
Monosomy 18Q
Pulmonary valve defects, Dysplastic pulmonary valve, Aortic aneurysm, Absence of the pulmonary va... ORPHA:1600
Thanatophoric Dysplasia Type 2
Atrial septal defect, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus ORPHA:93274
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Vascular dilatation, Aortic aneurysm, Arterial dissection, Aortic dissection, Recurrent pneumonia... ORPHA:1900
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Methylmalon... OMIM:614857
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia, Patent ductus arteriosus ORPHA:2655
Stevenson-Carey Syndrome
Left superior vena cava draining to coronary sinus, Atrial septal defect OMIM:611961
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Hydroureter OMIM:616559
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Tetralogy of Fallot, Pulmonary artery atresia ORPHA:1908
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Fryns Syndrome
Abnormal aortic arch morphology, Hypospadias, Vesicoureteral reflux, Abnormal aortic morphology, ... ORPHA:2059
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:615668
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... OMIM:615009
Kagami-Ogata Syndrome
Hepatomegaly, Pulmonic stenosis, Pulmonary hypoplasia, Splenomegaly, Patent ductus arteriosus, At... OMIM:608149
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Mosaic Trisomy 9
Abnormal lung lobation, Dextrocardia, Abnormal liver lobulation, Hypoplasia of penis, Abnormal he... ORPHA:99776
Craniofaciofrontodigital Syndrome
Anomalous branches of internal carotid artery, Dilatation of the cerebral artery, Cardiomegaly, P... ORPHA:363705
Keutel Syndrome
Pulmonary artery stenosis, Recurrent sinusitis, Ventricular septal defect, Recurrent respiratory ... ORPHA:85202
Loeys-Dietz Syndrome 4
Pneumothorax, Emphysema, Arterial tortuosity, Aortic root aneurysm, Ascending tubular aorta aneur... OMIM:614816
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Mosaic Trisomy 16
Atrial septal defect, Hypospadias, Abnormal lung morphology, Coarctation of aorta, Abnormal heart... ORPHA:1708
Noonan Syndrome 10
Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarc... OMIM:616564
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Vesicoureteral reflux, Coarctation of aorta, Tetralogy of Fallot, Patent duc... OMIM:617159
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Patent ductus arteriosus... OMIM:620454
Angioosteohypotrophic Syndrome
Venous malformation, Prominent superficial veins ORPHA:75508
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:301039
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Atrioventricular canal defect, Vascular dilatation, Hypospadias,... ORPHA:500
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Hypoplastic aortic arch, Abnormal cardiac ventricl... ORPHA:261311
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:618223
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena... OMIM:614576
Acrocardiofacial Syndrome
Hypospadias, Hypoplasia of penis, Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Tetr... ORPHA:2008
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Patent ductus arterios... OMIM:614976
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Emanuel Syndrome
Unilateral renal agenesis, Recurrent respiratory infections, Truncus arteriosus, Pulmonic stenosi... OMIM:609029
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pleural effusion, Abnormal... OMIM:617397
Histiocytosis-Lymphadenopathy Plus Syndrome
Left superior vena cava draining to coronary sinus, Hepatomegaly, Pancreatic hypoplasia, Pulmonic... OMIM:602782
Gjc2-Related Late-Onset Primary Lymphedema
Varicose veins, Abnormal lymphatic vessel morphology, Hypoplasia of lymphatic vessels, Venous ins... ORPHA:568051
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Vesicoureteral reflux, Tricuspid stenosis, Multiple m... ORPHA:391641
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect, Urinary incontinence OMIM:620094
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Digeorge Syndrome
Right aortic arch with mirror image branching, Atelectasis, Unilateral renal agenesis, Cholelithi... OMIM:188400
Marfan Syndrome
Pneumothorax, Tricuspid valve prolapse, Emphysema, Mitral annular calcification, Aortic root aneu... OMIM:154700
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Kawasaki Disease
Myocarditis, Abnormal pulmonary interstitial morphology, Jaundice, Recurrent pharyngitis, Abnorma... ORPHA:2331
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect, Micropenis, Bilateral lung agenesis OMIM:618021
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Truncus arteriosus, Patent ductus arteriosus, Ventricular sept... OMIM:617516
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Aortic aneurysm, Multiple muscular ventricular septal defects, Pericardial ... OMIM:620070
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect ORPHA:96129
Holoprosencephaly 13, X-Linked
Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal... OMIM:301043
Genetic Recurrent Myoglobinuria
Hyperkalemia, Difficulty walking, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Vent... ORPHA:329224
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Abnormal vena cava morphology, Pleural effusion, ... ORPHA:1677
Lymphedema-Distichiasis Syndrome
Chylothorax, Tetralogy of Fallot, Patent ductus arteriosus, Varicose veins, Ventricular septal de... OMIM:153400
3-Methylglutaconic Aciduria, Type V
3-Methylglutaconic aciduria, Hypospadias, Microvesicular hepatic steatosis, Noncompaction cardiom... OMIM:610198
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Hypospadias, Unilat... ORPHA:363444
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Pericardial effusion, Persistent left superior vena ... OMIM:618775
Trisomy 13
Abnormal lung lobation, Abnormality of the ureter, Hydronephrosis, Displacement of the urethral m... ORPHA:3378
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot, Unilateral renal agenesis ORPHA:3306
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Asplenia, Pulmonic stenosis, Ventricular septal defect, Abdominal ... OMIM:619123
Loeys-Dietz Syndrome 6
Arterial tortuosity, Vertebral artery aneurysm, Ventricular hypertrophy, Transient ischemic attac... OMIM:619656
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Frank-Ter Haar Syndrome
Patent foramen ovale, Secundum atrial septal defect, Mitral valve prolapse, Double outlet right v... OMIM:249420
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:619909
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypospadias, Recurrent pneumonia, Patent ductus arteriosus, Bicuspid aortic valve, Ventricular se... OMIM:617751
Atelis Syndrome 1
Bronchiectasis, Atrial septal defect, Ventricular septal defect OMIM:620184
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Charge Syndrome
Patent ductus arteriosus, Right aortic arch, Pulmonary artery atresia, Pulmonic stenosis, Renal h... OMIM:214800
Familial Multiple Nevi Flammei
Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency ORPHA:624
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ischemic stroke, Transposition of the great arteries, Muscular ventricular septal defect, Unilate... OMIM:619503
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly...<